C2931187[trait identifier] AND "Research Laboratory of Human Genome an - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065629	NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)	CTNS, CTNS-AS1 (Q88K)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 4458	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	CTNS, CTNS-AS1 (S139F)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1065827	NM_004937.3(CTNS):c.681+8del	CTNS, CTNS-AS1	Deletion (intron variant)	Nephropathic cystinosis	GPathogenic

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